A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv376e199



Internal ID20123678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96267379..96273722hg38UCSC Ensembl
chr13:96919633..96925976hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg386344
hg196344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2669413, esv2662908
SamplesNA19904, NA18523, NA19311, NA18511, NA19467, NA18856, NA19190, NA19332
Known GenesHS6ST3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv376e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer